High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India

Joseph, Anu Yamuna; Rasool, T. J.

doi:10.1016/j.ijporl.2008.11.010

Cited by 36 publications

(19 citation statements)

References 19 publications

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“…Overall, the mutation frequency of GJB2 gene found in our study is lower (11.62%) than that detected among hearing impaired individuals in south India where Cx26 mutations account for about 36% of diseaseassociated genetic variation (Joseph and Rasool, 2009), a prevalence possibly due to different geographic or ancestral origin.…”

Section: Discussioncontrasting

confidence: 73%

“…Previous work demonstrated that incidences of this mutation are restricted to the Indian subcontinent probably resulting from a founder effect (Ramshankar et al, 2003) and that p.W24X is a predominant pathogenic mutation leading to autosomal recessive non-syndromic hearing loss in India (Joseph and Rasool, 2009). The prevalence of the p.W24X mutation in our study was lower than that reported in south Indians, but higher than the incidence in north Indian hearing loss probands (Table 5).…”

Section: Discussioncontrasting

confidence: 60%

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Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India

Adhikary

Ghosh

Paul

et al. 2015

Gene

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Section: Discussioncontrasting

confidence: 73%

Section: Discussioncontrasting

confidence: 60%

Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India

Adhikary

Ghosh

Paul

et al. 2015

Gene

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“…7 In Kerala, 38% of children with hearing impairment were having a family history. 8 These data are highlighting the need of creating awareness on a preventable cause of hearing impairment in India. 9 In our study, in the control group, 14 (28%) children had positive history for consanguinity of parents.…”

Section: Discussionmentioning

confidence: 99%

Study of association of family history and consanguinity with congenital hearing loss

Shrikrishna

Deepa

2016

Int J Otorhinolaryngol Head Neck Surg

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Background: Knowledge about the association of family history and consanguinity with congenital hearing loss is vital in order to prevent occurrence of such morbidity in future generations. The aim of the study was to find the strength of association between family history and consanguinity and congenital hearing loss.Methods: A case control study was done using 50 congenitally deaf children and 50 children with normal hearing. A detailed history was taken from the parents with regard to family history of hearing loss and consanguinity.Results: In the case group, 28% children had a family history of hearing loss and in the control group; none had a family history of hearing loss. In the case group, 48% of the children had parents with consanguinity. In the control group, 28% of the children had parents with consanguinity.Conclusions: Family history and consanguinity play significant role in children having congenital hearing loss. Hence, avoidance of consanguineous marriages and pre-marital genetic counselling can prevent congenital hearing loss.

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“…Mutations in the gap junction gene GJB2 account for a high proportion of NSHL patients. The GJB2 gene encodes connexin 26, which forms plasma membrane channels between cochlear cells (Joseph and Rasool 2009;Hashemzadeh Chaleshtori et al 2008;Hashemzadeh Chaleshtori et al 2005;Sadeghi et al 2009). More than 200 mutations and polymorphisms associated with NSHL have been reported in GJB2 gene (Van Laer et al 2001;Hosseinipour et al 2005;Galehdari et al 2009).…”

Section: Introductionmentioning

confidence: 99%

BanI/D13S141/D13S175 Represents a Novel Informative Haplotype at the GJB2 Gene Region in the Iranian Population

Rezaei

Vallian

2011

Cell Mol Neurobiol

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Non-syndromic sensorineural hearing loss (NSHL) represents the most common cause of hearing loss in the Iranian patients. In view of the large numbers of mutations identified in GJB2, mutations analysis of the gene has been time-consuming and cost-ineffective. Alternatively, molecular markers that are highly linked to the GJB2 gene have proven to be useful in carrier detection and prenatal diagnosis of NSHL families. These markers usually show a population-dependent-based haplotype frequency. However, to date, no information on the genotyping and frequency of the markers is present for the Iranian population. In this study, genotyping and analysis of the haplotype frequency of three markers, including BanI, D13S141, and D13S175, at the GJB2 region were investigated. The haplotype frequency was estimated using PHASE program. The input data contained two alleles (+ and -) for BanI, four alleles for D13S141, and seven alleles for D13S175. Among the 42 possible haplotypes examined, four haplotypes showed relatively high frequencies (≥5%). Therefore, a combination of BanI/D13S141/D13S175 could be suggested as an informative haplotype for possible carrier detection and prenatal diagnosis of NSHL in the Iranian population.

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High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India

Cited by 36 publications

References 19 publications

Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India

Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India

Study of association of family history and consanguinity with congenital hearing loss

BanI/D13S141/D13S175 Represents a Novel Informative Haplotype at the GJB2 Gene Region in the Iranian Population

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